A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2338



Internal ID15546901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65132531..65162145hg38UCSC Ensembl
Outerchr18:62799767..62829381hg19UCSC Ensembl
Outerchr18:60950747..60980361hg18UCSC Ensembl
Outerchr18:60950747..60980361hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3811354
hg1911354
hg1811354
hg1711354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418
SamplesNA19240
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2338
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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